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Showing items 51-100 of 770 (16 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2021-09-17T05:40:57Z	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Huang S.-C.; Wu E.-T.; SHUENN-NAN CHIU; Hwu W.-L.; Wu M.-H.; Wang S.-S.
臺大學術典藏	2021-09-17T05:40:57Z	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2021-09-17T05:40:55Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen L.-R.; Chen C.-A.; SHUENN-NAN CHIU; Chien Y.-H.; Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2021-09-17T05:40:49Z	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; SHUENN-NAN CHIU; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2021-09-14T01:40:06Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; CHI-NIEN CHEN; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2021-09-02T00:09:13Z	Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	Kuo C.-W;Hwu W.-L;Chien Y.-H;Hsu C;Hung M.-Z;Lin I.-L;Lai F;Lee N.-C.; Kuo C.-W; Hwu W.-L; Chien Y.-H; Hsu C; Hung M.-Z; Lin I.-L; Lai F; Lee N.-C.; FEI-PEI LAI
臺大學術典藏	2021-09-01T01:54:02Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Kuo W.-H.; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; ANN-LII CHENG; Hsieh F.-J.; Hwu W.-L.; Chang K.-J.
臺大學術典藏	2021-08-23T07:09:05Z	Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma	Weng H.-L.; FENG-JUNG YANG; Chien Y.-H.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2021-08-23T07:09:04Z	Dietary intake and nutritional status of patients with phenylketonuria in Taiwan	Weng H.-L.; FENG-JUNG YANG; Chen P.-R.; Hwu W.-L.; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2021-07-06T02:04:01Z	Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan	Tung Y.-C.; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; Yang W.-S.; Hwu W.-L.; PEI-LUNG CHEN; Tsai W.-Y.
臺大學術典藏	2021-07-03T03:34:55Z	Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment	Wu C.-C.; Lu Y.-C.; PEI-JER CHEN; Liu A.Y.-Z.; Hwu W.-L.; Hsu C.-J.
臺大學術典藏	2021-07-03T03:34:45Z	Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome	Wu C.-C.; Lu Y.-C.; PEI-JER CHEN; Yeh P.-L.; Su Y.-N.; Hwu W.-L.; Hsu C.-J.
臺大學術典藏	2021-07-02T03:42:41Z	DiGeorge sequence with hypogammaglobulinemia: A case report	Chien Y.-H.; Yang Y.-H.; Chu S.-Y.; Hwu W.-L.; Kuo P.-L.; BOR-LUEN CHIANG
臺大學術典藏	2021-07-02T03:42:39Z	Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings	Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; Chou C.-C.; BOR-LUEN CHIANG
臺大學術典藏	2021-07-02T03:42:30Z	Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan	Chien Y.-H.; Hwu W.-L.; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; BOR-LUEN CHIANG
臺大學術典藏	2021-07-02T03:42:10Z	The genetics of atopic dermatitis	Chien Y.-H.; Hwu W.-L.; BOR-LUEN CHIANG
臺大學術典藏	2021-07-02T03:41:49Z	Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010	Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; BOR-LUEN CHIANG; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; Hwu W.-L.; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W.
臺大學術典藏	2021-07-02T03:41:15Z	Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency	Yu H.-H.;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yang Y.-H.;Hwu W.-L.;Bor-Luen Chiang; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; BOR-LUEN CHIANG
臺大學術典藏	2021-07-02T02:35:35Z	Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease	Chien Y.-H.; Han D.-S.; Hwu W.-L.; Thurberg B.L.; WEI-SHIUNG YANG
臺大學術典藏	2021-07-02T02:35:16Z	Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan	Tung Y.-C.; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; WEI-SHIUNG YANG; Hwu W.-L.; Chen P.-L.; Tsai W.-Y.
臺大學術典藏	2021-06-29T08:16:06Z	Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations	Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L.
臺大學術典藏	2021-06-29T08:16:05Z	Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment	Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Wang T.-R.; Hwu W.-L.
臺大學術典藏	2021-06-29T08:15:50Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; YEN-NAN CHIU; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Chiu M.-J.
臺大學術典藏	2021-06-24T07:19:36Z	Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism	Huang H.-P.; Chien Y.-H.; LI-MIN HUANG; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2021-06-11T02:54:15Z	The controversy regarding diagnostic criteria for early myoclonic encephalopathy	Wang P.-J.; WANG-TSO LEE; Hwu W.-L.; Young C.; Yau K.-I.T.; Shen Y.-Z.
臺大學術典藏	2021-06-11T02:54:15Z	Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease	Wang P.-J.; Hwu W.-L.; WANG-TSO LEE; Wang T.-R.; Shen Y.-Z.
臺大學術典藏	2021-06-03T06:50:22Z	Tandem mass neonatal screening in Taiwan - Report from one center	HSIANG-PO HUANG; Chu K.-L.; Chien Y.-H.; Wei M.-L.; Wu S.-T.; Wang S.-F.; Hwu W.-L.
臺大學術典藏	2021-06-03T06:50:22Z	Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism	HSIANG-PO HUANG; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2021-06-03T06:50:21Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	Chien Y.H.; HSIANG-PO HUANG; Hwu W.L.; Chien Y.H.; Chang T.C.; Lee N.C.
臺大學術典藏	2021-06-03T06:50:17Z	Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	HSIANG-PO HUANG; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.
臺大學術典藏	2021-05-18T05:54:28Z	Complications of erythropoietin in navigated brain gene therapy: A case report	SHENG-HONG TSENG; Tai C.-H.; Hwu W.-L.
臺大學術典藏	2021-04-07T01:56:47Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	TING-YU YEN; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏	2021-03-29T06:37:04Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu, E.-T.; Hwu, W.-L.; Chien, Y.-H.; Hsu, C.; Chen, T.-F.; Chen, N.-Q.; Chou, H.-C.; Tsao, P.-N.; Fan, P.-C.; Tsai, I.-J.; Lin, S.-P.; Hsieh, W.-S.; Chang, T.-M.; Chen, C.-N.; Lee, C.-H.; Chou, Y.-Y.; Chiu, P.-C.; Tsai, W.-H.; Hsiung, H.-C.; Lai, F.; Lee, N.-C.; FEI-PEI LAI
臺大學術典藏	2021-03-18T05:59:08Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; KAI-YUAN TZEN; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.
臺大學術典藏	2021-03-18T05:59:06Z	Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency	Lee N.-C.; Shieh Y.-D.; Chien Y.-H.; KAI-YUAN TZEN; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L.
臺大學術典藏	2021-03-18T05:59:04Z	AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients	Hwu W.-L.; Lee N.-C.; Shieh Y.-D.; KAI-YUAN TZEN; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H.
臺大學術典藏	2021-03-18T05:59:02Z	Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector	Lee N.-C.; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; KAI-YUAN TZEN; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2021-03-18T05:59:00Z	Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency	Lee N.-C.; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; KAI-YUAN TZEN; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2021-03-18T02:02:47Z	Outcome of early-treated type III Gaucher disease patients	Lee N.-C.;Chien Y.-H.;Wong S.-L.;Sheen J.-M.;Tsai F.-J.;Peng S.-F.;Leung J.H.;Chao M.-C.;Chia-Tung Shun;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN; Hwu W.-L.
臺大學術典藏	2021-03-18T02:02:21Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	Juang J.-M.J.;Chia-Tung Shun;Chen Y.-S.;Hwu W.-L.;Lee N.-C.;Tsai W.-H.;Chen N.-Q.;Chien Y.-H.; Juang J.-M.J.; CHIA-TUNG SHUN; Chen Y.-S.; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.
臺大學術典藏	2021-02-04T06:46:28Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.; Tung Y.-C.; Hwu W.-L.; JIN-CHUNG SHIH; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C.
臺大學術典藏	2021-02-02T02:22:18Z	Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma	Tsai C.-W.; Yang C.-C.; Chen H.-L.; Hwu W.-L.; Wu M.-Z.; Liu K.-L.; MING-SHIANG WU
臺大學術典藏	2021-01-27T01:38:18Z	Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.	Lee M.J.; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; CHIA-LI YU
臺大學術典藏	2021-01-21T02:05:00Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; CHIEN-YI CHEN; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; Lee N.-C.
臺大學術典藏	2021-01-11T07:19:42Z	Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening	Tsai W.-Y.; Hwu W.-L.; Chien Y.-H.; Tung Y.-C.; SHIH-YAO LIU; Lee C.-T.; Shih-Yao Liu;Lee C.-T.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.
臺大學術典藏	2021-01-11T07:19:40Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; SHIH-YAO LIU; Tsai W.-Y.; Lee N.-C.
臺大學術典藏	2021-01-08T07:28:13Z	Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening	Liu S.-Y.;Cheng-Ting Lee;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu S.-Y.; CHENG-TING LEE; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.
臺大學術典藏	2021-01-08T07:28:13Z	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Hwu W.-L.; Lee N.-C.; Chien C.-C.; Lin C.-H.;Chien Y.-H.;Peng S.-F.;Tsai W.-Y.;Tung Y.-C.;Cheng-Ting Lee;Chien C.-C.;Hwu W.-L.;Lee N.-C.; Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; CHENG-TING LEE
臺大學術典藏	2021-01-08T07:28:12Z	SHOX deficiency in short Taiwanese children: A single-center experience	Tung Y.-C.;Lee N.-C.;Hwu W.-L.;Liu S.-Y.;Cheng-Ting Lee;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; Lee N.-C.; Hwu W.-L.; Liu S.-Y.; CHENG-TING LEE; Chien Y.-H.; Tsai W.-Y.
臺大學術典藏	2021-01-08T07:28:12Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Cheng-Ting Lee;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; CHENG-TING LEE; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C.

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